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Nucleoporin genes in human diseases

European Journal of Human Genetics
DOI: 10.1038/ejhg.2016.25
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Abstract

Nuclear pore complexes (NPCs) are large channels spanning the nuclear envelope that mediate nucleocytoplasmic transport. They are composed of multiple copies of ∼30 proteins termed nucleoporins (NUPs). Alterations in NUP genes are linked to several human neoplastic and non-neoplastic diseases. This review focuses on NUPs, their genes, localization, function in the NPC and involvement in human diseases.

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Nofrini, V., DI Giacomo, D., & Mecucci, C. (2016, October 1). Nucleoporin genes in human diseases. European Journal of Human Genetics. Nature Publishing Group. https://doi.org/10.1038/ejhg.2016.25

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